Structural highlights
Disease
APOB_HUMAN Homozygous familial hypercholesterolemia. The disease is caused by variants affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844).[1] The disease is caused by variants affecting the gene represented in this entry. Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
Function
APOB_HUMAN Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
References
- ↑ Gangloff A, Bergeron J, Couture P, Martins R, Hegele RA, Gagné C. A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. J Clin Lipidol. 2011 Sep-Oct;5(5):414-7. PMID:21981844 doi:10.1016/j.jacl.2011.06.014
